Nucleus-driven mutations of human mitochondrial DNA

M. Zeviani

Research output: Contribution to journalArticle

Abstract

Neuromuscular disorders due to abnormalities of mitochondrial energy supply have become an important area of human pathology. In particular, lesions of the mitochondrial genome (mtDNA), a small extra-nuclear chromosome which encodes 13 subunits of the respiratory chain complexes, are responsible for a steadily increasing number of neuromuscular syndromes. In addition to sporadic or maternally-inherited mutations, either qualitative or quantitative abnormalities of mtDNA can be transmitted as Mendelian traits, leading to well-defined mitochondrial encephalomyopathies. The latter are presumably caused by mutations in still unknown nucleus-encoded genes which deleteriously interact with the mitochondrial genome. These observations are of importance from both clinical and theoretical points of view, because they are the first examples of diseases produced by abnormalities of the nuclear control over mitochondrial biogenesis.

Original languageEnglish
Pages (from-to)456-471
Number of pages16
JournalJournal of Inherited Metabolic Disease
Volume15
Issue number4
DOIs
Publication statusPublished - Jul 1992

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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